1. Gene
  2. FASTKD2 - FAST kinase domains 2 Gene

FASTKD2 - FAST kinase domains 2 Gene

中文名称:FAST 激酶结构域 2

种属: Homo sapiens

同用名: COXPD44; KIAA0971

基因 ID: 22868 | 基因类型: protein coding

关于 FASTKD2

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,765,606-206,796,189 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 5.2), heart (RPKM 4.8) and 25 other tissues.

功能概要

该基因编码一种位于线粒体内腔的蛋白质,可能在线粒体细胞凋亡中发挥作用。据报道,无义突变会导致细胞色素 c 氧化酶缺乏。[RefSeq 提供,2008 年 10 月]

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial Apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

FASTKD2 基因产物(3)

mRNA Protein Name
NM_001136193.2 NP_001129665.1 FAST kinase domain-containing protein 2, mitochondrial
NM_001136194.2 NP_001129666.1 FAST kinase domain-containing protein 2, mitochondrial
NM_014929.4 NP_055744.2 FAST kinase domain-containing protein 2, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
enables rRNA binding IDA
IDA: 通过直接分析推断
25683715 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA processing IDA
IDA: 通过直接分析推断
26370583 GOA
involved in apoptotic process IMP
IMP: 通过突变表型推断
18771761 GOA
involved in mitochondrial large ribosomal subunit assembly IMP
IMP: 通过突变表型推断
25683715 GOA
involved in mitochondrial translation IDA
IDA: 通过直接分析推断
26370583 GOA
involved in positive regulation of mitochondrial translation IMP
IMP: 通过突变表型推断
27667664 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
25683715 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
18771761 GOA
located in ribonucleoprotein granule IDA
IDA: 通过直接分析推断
25683715 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FASTKD2 蛋白结构

FAST_1

FAST_1: FAST kinase-like protein, subdomain 1 (456 - 528)

FAST_2

FAST_2: FAST kinase-like protein, subdomain 2 (536 - 619)

RAP

RAP: RAP domain (638 - 691)

  • 0
  • 200
  • 400
  • 600
  • 710 a.a.
蛋白主名 其他名称

FAST kinase domain-containing protein 2, mitochondrial

FASTKD2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FASTKD2 Q9NYY8 LAMP2 Homo sapiens P13473-2 32814053
种属内
FASTKD2 Q9NYY8 LAMP2 Homo sapiens P13473-2 32814053
种属内
FASTKD2 Q9NYY8 LAMP2 Homo sapiens P13473-2 32814053
种属内
FASTKD2 Q9NYY8 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
FASTKD2 Q9NYY8 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
FASTKD2 Q9NYY8 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
FASTKD2 Q9NYY8 CFTR Homo sapiens P13569 35156780
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 44

COXPD44

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Spastic Paraplegia 7, Autosomal Recessive

SPG7

Hereditary Spastic Paraplegia 7

Spastic Paraplegia Type 7

Spastic Paraplegia 7

Hereditary Spastic Paraplegia, Paraplegin Type

Autosomal Recessive Spastic Paraplegia 7

Hereditary Spastic Paraplegia Paraplegin Type

Spastic Paraplegia-7

Paraplegia, Spastic, Autosomal Recessive, Type 7

Spastic Paraplegia, Hereditary

Autosomal Recessive Hereditary Spastic Paraplegia

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus FASTKD2 MGD MGI:1922869
Macaca mulatta FASTKD2 VGNC VGNC:72594
Felis catus FASTKD2 VGNC VGNC:62155
Bos taurus FASTKD2 VGNC VGNC:28874
Rattus norvegicus FASTKD2 RGD RGD:1307883
Canis familiaris FASTKD2 VGNC VGNC:40739